Pallister-killian syndrome

Preferred Label : Pallister-killian syndrome;

Symbol : PKS;

CISMeF acronym : PKS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tetrasomy 12p, mosaic; Isochromosome 12p syndrome;

Included titles and symbols : Hexasomy 12p, mosaic;

Description : Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10) (Peltomaki et al., 1987; Warburton et al., 1987).;

Inheritance : Somatic mosaicism;

Molecular basis : Contiguous gene syndrome caused by mosaicism for tetrasomy of chromosome 12p;

Laboratory abnormalities : Mosaic tetrasomy 12p in skin fibroblasts; Isochromosome often missing in lymphocyte;

Prefixed ID : #601803;

Détails

Origin ID

601803;

UMLS CUI

C0265449;

Automatic exact mappings (from CISMeF team)
- ARAF wt Allele [NCIt concept]
- Pallister-Killian syndrome [MedDRA Preferred Term]
- Pharmacokinetics [NCIt concept]
- Primary Key [NCIt concept]
- Serine/Threonine-Protein Kinase A-Raf [NCIt concept]
- Tetrasomy 12p mosaicism [ICD-11 More detail]
- hexasomy 12p, mosaic [MeSH concept]
- pharmacokinetics [MeSH Descriptor]
- polyketide synthase complex [GO term]
Currated CISMeF NLP mapping
- Pallister Killian syndrome [MeSH concept]
- Pallister-Killian Syndrome [NCIt concept]
- Pallister-Killian syndrome (disorder) [Inactive SNOMED CT concept]
- Tetrasomy 12p [ORDO Disease]
- Tetrasomy 12p syndrome (disorder) [SNOMED CT concept]
- pallister killian syndrome [MeSH Supplementary Concept]
- tetrasomy 12p [SNOMED Notion]
False automatic mappings
- Pakistan [NCIt concept]
HPO term(s)
- 11 pairs of ribs [HPO term]
- Absent speech [HPO term]
- Alopecia [HPO term]
- Alveolar ridge overgrowth [HPO term]
- Anal atresia [HPO term]
- Anal stenosis [HPO term]
- Anhidrosis [HPO term]
- Anteriorly placed anus [HPO term]
- Anteverted nares [HPO term]
- Aortic valve stenosis [HPO term]
- Aplasia of the upper vagina [HPO term]
- Aplasia of the uterus [HPO term]
- Apneic episodes in infancy [HPO term]
- Atrial septal defect [HPO term]
- Bifid uvula [HPO term]
- Broad foot [HPO term]
- Broad palm [HPO term]
- Broad, flat nasal root [HPO term]
- Camptodactyly of 2nd-5th fingers [HPO term]
- Cataract [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coarctation of aorta [HPO term]
- Coarse facial features [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Deafness [HPO term]
- Deceleration of head growth [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed eruption of teeth [HPO term]
- Depressed nasal bridge [HPO term]
- Enamel hypoplasia [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Feeding difficulties [HPO term]
- Fetal onset [HPO term]
- Flexion contracture [HPO term]
- Frontal bossing [HPO term]
- Full cheeks [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- High forehead [HPO term]
- Hip dislocation [HPO term]
- Hyperpigmented streaks [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hyperventilation [HPO term]
- Hypohidrosis [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypopigmented streaks [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplastic labia majora [HPO term]
- Hyporeflexia [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile muscular hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, moderate [HPO term]
- Intellectual disability, profound [HPO term]
- Intestinal malrotation [HPO term]
- Kyphoscoliosis [HPO term]
- Laryngomalacia [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Macrotia [HPO term]
- Mesomelic/rhizomelic limb shortening [HPO term]
- Micrognathia [HPO term]
- Myopia [HPO term]
- Nasogastric tube feeding [HPO term]
- Nystagmus [HPO term]
- Obesity [HPO term]
- Omphalocele [HPO term]
- Patent ductus arteriosus [HPO term]
- Persistent head lag [HPO term]
- Polyhydramnios [HPO term]
- Poor suck [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Premature rupture of membranes [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Protruding lower lip [HPO term]
- Ptosis [HPO term]
- Pulmonary hypoplasia [HPO term]
- Relative macrocephaly [HPO term]
- Renal cyst [HPO term]
- Renal dysplasia [HPO term]
- Rhizomelia [HPO term]
- Sacral dimple [HPO term]
- Secondary microcephaly [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short palm [HPO term]
- Short phalanx of finger [HPO term]
- Short toe [HPO term]
- Single transverse palmar crease [HPO term]
- Small scrotum [HPO term]
- Small scrotum [HPO term]
- Somatic mosaicism [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse anterior scalp hair [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse hair [HPO term]
- Sparse scalp hair [HPO term]
- Stenosis of the external auditory canal [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Supernumerary nipple [HPO term]
- Telecanthus [HPO term]
- Tented upper lip vermilion [HPO term]
- Tethered cord [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
- Weak cry [HPO term]
- Webbed neck [HPO term]
- Wide anterior fontanel [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
- coarse facial features over time [HPO term]
ORDO concept(s)
- Tetrasomy 12p [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pallister Killian syndrome [MeSH concept]
- Pallister-Killian Syndrome [NCIt concept]
- Pallister-Killian syndrome [MedDRA Preferred Term]
- Pallister-Killian syndrome (disorder) [Inactive SNOMED CT concept]
- Tetrasomy 12p [ORDO Disease]
- Tetrasomy 12p syndrome (disorder) [SNOMED CT concept]
- pallister killian syndrome [MeSH Supplementary Concept]
- tetrasomy 12p [SNOMED Notion]

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